Varaico: Literature-Extracted Genetic Variants

Gene:SLC9A6
Variant:p.E547*

SLC9A6

130 papers

RefSeq Summary

This gene encodes a sodium-hydrogen exchanger that is amember of the solute carrier family 9. The encoded protein localizes to early and recycling endosomes and may be involved in regulating endosomal...

Pfam Domains

Na_H_Exchangeraa 27–451UCSCSodium/hydrogen exchanger, transmembrane

Gene Aliases

HGNC Name

solute carrier family 9 member A6

HGNC Alias Symbols

NHE6; KIAA0267; NHE-6

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
8 papers
NM_001042537.2
p.E547*
c.1639G>T
NM_006359.3
p.E515*
c.1543G>T
Surrounding Variants
1 paper
NM_001379110.1
p.D523_E525delFs
c.1569_1573del5
1 paper
NM_006359.3
p.H516_L517insFs
c.1548_1549insT
1 paper
NM_001379110.1
p.L527insFs
c.1579_1580insCA
1 paper
NM_006359.3
p.L517fs
c.1549_1550fs
1 paper
NM_006359.3
p.L517fs
c.1549_1550fs
2 papers
NM_001042537.2
p.S544*
c.1631C>A
2 papers
NM_001042537.2
p.S544*
c.1631C>G
1 paper
NM_006359.3
p.S512_D513del2
c.1534_1538del6
2 papers
NM_001379110.1
p.V520insFs
c.1560dupT
1 paper
NM_001379110.1
p.G519S
c.1555G>A
2 papers
NM_001379110.1
p.D516_R517insFs
c.1548_1549insT
1 paper
NM_001379110.1
p.F512_G513del2
c.1534_1538del6
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